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2015 Journal Article Prediction of individual genetic risk to prostate cancer using a polygenic scoreSzulkin, Robert, Whitington, Thomas, Eklund, Martin, Aly, Markus, Eeles, Rosalind A., Easton, Douglas, Kote-Jarai, ZSofia, Al Olama, Ali Amin, Benlloch, Sara, Muir, Kenneth, Giles, Graham G., Southey, Melissa C., Fitzgerald, Liesel M., Henderson, Brian E., Schumacher, Fredrick, Haiman, Christopher A., Schleutker, Johanna, Wahlfors, Tiina, Tammela, Teuvo L. J., Nordestgaard, Borge G., Key, Tim J., Travis, Ruth C., Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Pharoah, Paul, Pashayan, Nora, Khaw, Kay-Tee, Stanford, Janet L. ... Wiklund, Fredrik (2015). Prediction of individual genetic risk to prostate cancer using a polygenic score. Prostate, 75 (13), 1467-1474. doi: 10.1002/pros.23037 |
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2015 Journal Article Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosisSobral-Leite, Marcelo, Wesseling, Jelle, Smit, Vincent T. H. B. M., Nevanlinna, Heli, van Miltenburg, Martine H., Sanders, Joyce, Hofland, Ingrid, Blows, Fiona M., Coulson, Penny, Patrycja, Gazinska, Schellens, Jan H. M., Fagerholm, Rainer, Heikkila, Paivi, Aittomaki, Kristiina, Blomqvist, Carl, Provenzano, Elena, Ali, Hamid Raza, Figueroa, Jonine, Sherman, Mark, Lissowska, Jolanta, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Phillips, Kelly-Anne, Couch, Fergus J., Olson, Janet E., Vachon, Celine, Visscher, Daniel ... Spurdle, Amanda (2015). Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis. BMC Medicine, 13 (1) 156, 1-11. doi: 10.1186/s12916-015-0392-6 |
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2015 Journal Article Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility lociAl Olama, Ali Amin, Benlloch, Sara, Antoniou, Antonis C., Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E., Haiman, Christopher A., Schumacher, Fredrick R., Pashayan, Nora, Pharoah, Paul D. P., Ostrander, Elaine A., Stanford, Janet L., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne K., Weischer, Maren, Nordestgaard, Borge G., Ingles, Sue A., Sorensen, Karina D., Orntoft, Torben F., Park, Jong Y., Cybulski, Cezary, Maier, Christiane, Doerk, Thilo ... Easton, Douglas F. (2015). Risk analysis of prostate cancer in practical, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiology Biomarkers and Prevention, 24 (7), 1121-1129. doi: 10.1158/1055-9965.EPI-14-0317 |
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2015 Journal Article An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersBlein, Sophie, Bardel, Claire, Danjean, Vincent, McGuffog, Lesley, Healey, Sue, Barrowdale, Daniel, Lee, Andrew, Dennis, Joe, Kuchenbaecker, Karoline B., Soucy, Penny, Terry, Mary Beth, Chung, Wendy K., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Neuhausen, Susan L., Ding, Yuan Chun, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C., Hansen, Thomas V. O., Osorio, Ana, Benitez, Javier, Andres Conejero, Raquel, Segota, Ena ... Cox, David G. (2015). An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Research, 17 (1) 61. doi: 10.1186/s13058-015-0567-2 |
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2015 Journal Article A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancerStegeman, Shane, Moya, Leire, Selth, Luke A., Spurdle, Amanda B., Clements, Judith A. and Batra, Jyotsna (2015). A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer. Endocrine-Related Cancer, 22 (2), 265-276. doi: 10.1530/ERC-15-0013 |
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2015 Journal Article Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriersBlanco I., Kuchenbaecker K., Cuadras D., Wang X., Barrowdale D., De Garibay G.R., Librado P., Sanchez-Gracia A., Rozas J., Bonifaci N., McGuffog L., Pankratz V.S., Islam A., Mateo F., Berenguer A., Petit A., Catala I., Brunet J., Feliubadalo L., Tornero E., Benitez J., Osorio A., Teresa R., Teresa C., Nevanlinna H., Aittomaki K., Arun B.K., Toland A.E., Karlan B.Y. ... Pujana M.A. (2015). Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE, 10 (4), 1-18. doi: 10.1371/journal.pone.0120020 |
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2015 Journal Article Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancerBeesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley and Webb, Penelope M. (2015). Incidence, risk factors, and estimates of a woman's risk for developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Obstetrical and Gynecological Survey, 70 (3), 176-177. doi: 10.1097/OGX.0000000000000167 |
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2015 Journal Article Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer ConsortiumFelix, Ashley S., Gaudet, Mia M., La Vecchia, Carlo, Nagle, Christina M., Shu, Xiao Ou, Weiderpass, Elisabete, Adami, Hans Olov, Beresford, Shirley, Bernstein, Leslie, Chen, Chu, Cook, Linda S., De Vivo, Immaculata, Doherty, Jennifer A., Friedenreich, Christine M., Gapstur, Susan M., Hill, Dierdre, Horn-Ross, Pamela L., Lacey, James V., Levi, Fabio, Liang, Xiaolin, Lu, Lingeng, Magliocco, Anthony, McCann, Susan E., Negri, Eva, Olson, Sara H., Palmer, Julie R., Patel, Alpa V., Petruzella, Stacey, Prescott, Jennifer ... Brinton, Louise A. (2015). Intrauterine devices and endometrial cancer risk: A pooled analysis of the Epidemiology of Endometrial Cancer Consortium. International Journal of Cancer, 136 (5), E410-E422. doi: 10.1002/ijc.29229 |
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2015 Journal Article Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer riskPainter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L. ... Spurdle A.B. (2015). Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 24 (5), 1478-1492. doi: 10.1093/hmg/ddu552 |
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2015 Journal Article Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2)Yang, H. P., Cook, L. S., Weiderpass, E., Adami, H. -O., Anderson, K. E., Cai, H., Cerhan, J. R., Clendenen, T. V., Felix, A. S., Friedenreich, C. M., Garcia-Closas, M., Goodman, M. T., Liang, X., Lissowska, J., Lu, L., Magliocco, A. M., McCann, S. E., Moysich, K. B., Olson, S. H., Petruzella, S., Pike, M. C., Polidoro, S., Ricceri, F., Risch, H. A., Sacerdote, C., Setiawan, V. W., Shu, X. O., Spurdle, A. B., Trabert, B. ... Brinton, L. A. (2015). Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2). British Journal of Cancer, 112 (5), 925-933. doi: 10.1038/bjc.2015.24 |
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2015 Journal Article BRCA1 Circos: A visualisation resource for functional analysis of missense variantsJhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C., Kessing, Bailey, Carvalho, Renato S., Whiley, Phillip, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Caputo, Sandrine M., Millot, Gael A., Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J., Pal, Tuya, van der Luijt, Rob B., Pena, Marta Santamarina, Neuhausen, Susan L., Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallee, Maxime, Couch, Fergus J., Tavtigian, Sean V., Glover, J. N. Mark, Carvalho, Marcelo A., Brody, Lawrence C., Sharan, Shyam K. and Monteiro, Alvaro N. (2015). BRCA1 Circos: A visualisation resource for functional analysis of missense variants. Journal of Medical Genetics, 52 (4), 224-230. doi: 10.1136/jmedgenet-2014-102766 |
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2015 Journal Article Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriersPeterlongo P., Chang-Claude J., Moysich K.B., Rudolph A., Schmutzler R.K., Simard J., Soucy P., Eeles R.A., Easton D.F., Hamann U., Wilkening S., Chen B., Rookus M.A., Schmidt M.K., Van Der Baan F.H., Spurdle A.B., Walker L.C., Lose F., Maia A.-T., Montagna M., Matricardi L., Lubinski J., Jakubowska A., Garcia E.B.G., Olopade O.I., Nussbaum R.L., Nathanson K.L., Domchek S.M., Rebbeck T.R. ... Friedman E. (2015). Candidate genetic modifiers for breast and ovarian cancer risk inBRCA1andBRCA2 mutation carriers. Cancer Epidemiology Biomarkers and Prevention, 24 (1), 308-316. doi: 10.1158/1055-9965.EPI-14-0532 |
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2015 Journal Article Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancerBeesley, Vanessa L., Rowlands, Ingrid J., Hayes, Sandi C., Janda, Monika, O'Rourke, Peter, Marquart, Louise, Quinn, Michael A., Spurdle, Amanda B., Obermair, Andreas, Brand, Alison, Oehler, Martin K., Leung, Yee, McQuire, Lesley, Webb, Penelope M. and On behalf of the Australian National Endometrial Cancer Study Group (2015). Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer. Gynecologic Oncology, 136 (1), 87-93. doi: 10.1016/j.ygyno.2014.11.006 |
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2015 Journal Article Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer riskCarvajal-Carmona, Luis G., O'Mara, Tracy A., Painter, Jodie N., Lose, Felicity A., Dennis, Joe, Michailidou, Kyriaki, Tyrer, Jonathan P., Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S., Pooley, Karen, Beesley, Jonathan, Cheng, Timothy, Jones, Angela, Howarth, Kimberley, Martin, Lynn, Gorman, Maggie, Hodgson, Shirley, Wentzensen, Nicholas, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Renner, Stefan P., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Lambrechts, Diether, Coenegrachts, Lieve ... Thompson, Deborah J. (2015). Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics, 134 (2), 231-245. doi: 10.1007/s00439-014-1515-4 |
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2014 Journal Article Most common 'sporadic' cancers have a significant germline genetic componentLu, Yi, Ek, Weronica E., Whiteman, David, Vaughan, Thomas L., Spurdle, Amanda B., Easton, Douglas F., Pharoah, Paul D., Thompson, Deborah J., Dunning, Alison M., Hayward, Nicholas K., Chenevix-Trench, Georgia and Macgregor, Stuart (2014). Most common 'sporadic' cancers have a significant germline genetic component. Human Molecular Genetics, 23 (22), 6112-6118. doi: 10.1093/hmg/ddu312 |
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2014 Journal Article Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predispositionMoir-Meyer, Gemma L., Pearson, John F., Lose, Felicity, Scott, Rodney J., McEvoy, Mark, Attia, John, Holliday, Elizabeth G., Pharoah, Paul D., Dunning, Alison M., Thompson, Deborah J., Easton, Douglas F., Spurdle, Amanda B. and Walker, Logan C. (2014). Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Human Genetics, 134 (3), 269-278. doi: 10.1007/s00439-014-1507-4 |
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2014 Journal Article Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Buchanan, Daniel D., Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B. and Win, Aung Ko (2014). Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome). Application of Clinical Genetics, 7, 183-193. doi: 10.2147/TACG.S48625 |
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2014 Journal Article A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancerAl Olama, Ali Amin, Kote-Jarai, Zsofia, Berndt, Sonja I., Conti, David V., Schumacher, Fredrick, Han, Ying, Benlloch, Sara, Hazelett, Dennis J., Wang, Zhaoming, Saunders, Ed, Leongamornlert, Daniel, Lindstrom, Sara, Jugurnauth-Little, Sara, Dadaev, Tokhir, Tymrakiewicz, Malgorzata, Stram, Daniel O., Rand, Kristin, Wan, Peggy, Stram, Alex, Sheng, Xin, Pooler, Loreall C., Park, Karen, Xia, Lucy, Tyrer, Jonathan, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Yeager, Merideth ... Haiman, Christopher A. (2014). A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nature genetics, 46 (10), 1103-1109. doi: 10.1038/ng.3094 |
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2014 Journal Article A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assaysThompson, B. A., Martins, A. and Spurdle, A. (2014). A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays. Clinical Genetics, 87 (2), 100-108. doi: 10.1111/cge.12450 |
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2014 Journal Article Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumColombo, Mara, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, Vecchi, Giovanna De, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia, Fackenthal, James D., Baralle, Diana, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo, Caldes, Trinidad, Walker, Logan, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo and de la Hoya, Miguel (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Human Molecular Genetics, 23 (14) ddu075, 3666-3680. doi: 10.1093/hmg/ddu075 |
